Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneou...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...
A previously healthy 7-week-old male infant was admitted because of clonic movements of the upper li...
Objective Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal re...
Biotinidase deficiency is an autosomal recessive metabolic disease that causes biotin deficiency. Th...
Two infants with manifestations of biotinidase deficiency presenting at age 3 weeks and 2 weeks are ...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurolog...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Four children with biotinidase deficiency were identified during the first year of a neonatal screen...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of ...
Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in di...
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneou...
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unex...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneou...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...
A previously healthy 7-week-old male infant was admitted because of clonic movements of the upper li...
Objective Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal re...
Biotinidase deficiency is an autosomal recessive metabolic disease that causes biotin deficiency. Th...
Two infants with manifestations of biotinidase deficiency presenting at age 3 weeks and 2 weeks are ...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurolog...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Four children with biotinidase deficiency were identified during the first year of a neonatal screen...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of ...
Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in di...
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneou...
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unex...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneou...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological sym...